Canonical Allele Identifier: CA345413666

Gene: RYR2

Linked Data

• COSMIC: COSM361454
• MyVariant Identifiers: chr1:g.237947589T>C (hg19) ; chr1:g.237784289T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784289T>C , CM000663.2:g.237784289T>C	GRCh38
NC_000001.10:g.237947589T>C , CM000663.1:g.237947589T>C	GRCh37
NC_000001.9:g.236014212T>C	NCBI36
NG_008799.2:g.746888T>C
NG_008799.3:g.747106T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3669T>C	ENSP00000499659.2:n.*3669T>C
ENST00000659194.3:c.12565T>C	ENSP00000499653.3:p.Cys4189Arg
ENST00000660292.2:c.12598T>C	ENSP00000499787.2:p.Cys4200Arg
ENST00000659194.2:c.4754T>C
ENST00000366574.7:c.12577T>C MANE Select	ENSP00000355533.2:p.Cys4193Arg
ENST00000659194.1:c.4754T>C
ENST00000660292.1:c.2630T>C
ENST00000360064.7:c.12529T>C	ENSP00000353174.7:p.Cys4177Arg
ENST00000366574.6:c.12577T>C	ENSP00000355533.2:p.Cys4193Arg
ENST00000609119.1:n.3772T>C
NM_001035.2:c.12577T>C	NP_001026.2:p.Cys4193Arg
XM_006711802.2:c.12631T>C	XP_006711865.1:p.Cys4211Arg
XM_006711803.2:c.12628T>C	XP_006711866.1:p.Cys4210Arg
XM_006711804.2:c.12607T>C	XP_006711867.1:p.Cys4203Arg
XM_006711805.2:c.12601T>C	XP_006711868.1:p.Cys4201Arg
XM_006711806.2:c.12595T>C	XP_006711869.1:p.Cys4199Arg
XM_006711807.2:c.12571T>C	XP_006711870.1:p.Cys4191Arg
XM_006711808.2:c.12394T>C	XP_006711871.1:p.Cys4132Arg
XM_006711810.2:c.12538T>C	XP_006711873.1:p.Cys4180Arg
XM_006711802.3:c.12631T>C	XP_006711865.1:p.Cys4211Arg
XM_006711803.3:c.12628T>C	XP_006711866.1:p.Cys4210Arg
XM_006711804.3:c.12607T>C	XP_006711867.1:p.Cys4203Arg
XM_006711805.3:c.12601T>C	XP_006711868.1:p.Cys4201Arg
XM_006711806.3:c.12595T>C	XP_006711869.1:p.Cys4199Arg
XM_006711807.3:c.12571T>C	XP_006711870.1:p.Cys4191Arg
XM_006711808.3:c.12394T>C	XP_006711871.1:p.Cys4132Arg
XM_006711810.3:c.12538T>C	XP_006711873.1:p.Cys4180Arg
XM_017002028.1:c.12610T>C	XP_016857517.1:p.Cys4204Arg
NM_001035.3:c.12577T>C MANE Select	NP_001026.2:p.Cys4193Arg